|
Gene Mutations
|
|
|
| Records Return:
(3)
|
|
|
|
|
| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| ALG3 | 608750 | 601110 | 3q27 | ARG171GLN | | CONGENITAL DISORDER OF GYLCOSYLATION, TYPE Id | 1 |
| ALG3 | 608750 | 601110 | 3q27 | MET157LYS | | CONGENITAL DISORDER OF GLUCOSYLATION, TYPE Id | 1 |
| ALG3 | 608750 | 601110 | 3q27 | TRP71ARG | | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id | 1 |
|
|
|